Identification of novel diseases with proteasome deficiency and their pathomechanism by analyzing a panel of associated genes
Project/Area Number |
15K09780
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Dermatology
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Research Institution | Wakayama Medical University |
Principal Investigator |
Kanazawa Nobuo 和歌山県立医科大学, 医学部, 准教授 (90343227)
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Co-Investigator(Kenkyū-buntansha) |
稲葉 豊 和歌山県立医科大学, 医学部, 助教 (00647571)
国本 佳代 和歌山県立医科大学, 医学部, 助教 (10438278)
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Project Period (FY) |
2015-04-01 – 2018-03-31
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Project Status |
Completed (Fiscal Year 2017)
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Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
|
Keywords | プロテアソーム / 自己炎症性疾患 / インターフェロン / 遺伝子 / 蛋白質 / 免疫学 |
Outline of Final Research Achievements |
Cases who were clinically diagnosed as Nakajo-Nishimura syndrome but not associated with a PSMB8 mutation were collected from all over Japan and provided for analysis of a panel of proteasome-associated genes as well as the genes associated with known interferonopathy, inflammasome and autophagy, and/or for the whole exome sequencing. As a result, several cases with Aicardi-Goutieres syndrome harboring a TREX1 mutation were identified, as well as a case with a novel proteasome-associated autoinflammatory syndrome with a PSMB9 mutation and a case with a novel interferonopathy harboring a mutation in the gene whose role as a disease cause had not been reported. Analysis of the proteasome activities, formation of the proteasome complex and accumulation of ubiquitin in these cases suggested the presence of a pathomechanism distinct from that of Nakajo-Nishimura syndrome.
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Report
(4 results)
Research Products
(50 results)
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[Journal Article] Novel PSTPIP1 gene mutation in pyoderma gangrenosum, acne and suppurative hidradenitis syndrome.2018
Author(s)
Saito N, Minami-Hori M, Nagahata H, Nozaki H, Iinuma S, Igawa S, Kanno K, Kishibe M, Kanazawa N, Ishida-Yamamoto A
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Journal Title
Journal of Dermatology
Volume: in press
Issue: 8
DOI
Related Report
Peer Reviewed
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[Journal Article] WNK1/HSN2 Founder Mutation in Patients with Hereditary Sensory and Autonomic Neuropathy: a Japanese cohort study.2017
Author(s)
Yuan JH, Hashiguchi A, Yoshimura A, Sakai N, Takahashi MP, Ueda T, Taniguchi A, Okamoto S, Kanazawa N7, Yamamoto Y, Saigoh K, Kusunoki S, Ando M, Hiramatsu Y, Okamoto Y, Takashima H.
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Journal Title
Clin Genet.
Volume: -
Issue: 6
Pages: 659-663
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Presentation] Comparative study of cutaneous adverse reactions induced by a proteasome inhibitor with skin eruptions in Nakajo-Nishimura syndrome.2016
Author(s)
Kunimoto K, Kanazawa N, Furukawa F, Manabe K, Asagoe K, Yamasaki O, Kabahara T, Kanaoka M, Aihara M, Teraki Y, Izaki S, Okuyama R, Yamamoto T, Hanna J
Organizer
The 41st Annual Meeting of the Japanese Society for Investigative Dermatology
Place of Presentation
Sendai, Japan
Year and Date
2016-12-09
Related Report
Int'l Joint Research
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[Presentation] A Japanese case of newly-developed multibacillary leprogy.2016
Author(s)
Kanazawa N, Watanabe Y, Nishiguchi M, Kaminaka C, Furukawa F, Komori R, Yasui M, Murata K, Ito H, Tateishi C, Tsuruta D, Ishii N
Organizer
The 12th Meeting of the German-Japanese Society of Dermatology
Place of Presentation
Karuizawa, Japan
Year and Date
2016-10-12
Related Report
Int'l Joint Research
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[Presentation] Disease modeling of a proteasome-associated autoinflammatory syndrome using patient-specific induced pluripotent stem cells.2016
Author(s)
Honda-Ozaki F, Ito H, Niwa A, Hotta A, Li HL, Asaka I, Yanagimachi M, Kanazawa N, Nakahata T, Saito MK
Organizer
17th Biennial Meeting of the European Society for Immunodeficiencies
Place of Presentation
Barcelona, Spain
Year and Date
2016-09-21
Related Report
Int'l Joint Research
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